Previous Article in Journal
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
IJNS
Volume 11
Issue 1
10.3390/ijns11010011
IJNS-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study

by
Beatriz De Felipe
1,
Carmen Delgado-Pecellin
1,2,
Mercedes Lopez-Lobato
3,
Peter Olbrich
1,4,
Pilar Blanco-Lobo
1,4,
Josefina Marquez-Fernandez
5,
Carmen Salamanca
6,
Beatriz Mendoza
7,
Rocio Castro-Serrano
2,
Cristina Duque
8,
Mariana Moreno-Prieto
9,
Marcos Madruga-Garrido
9,
Jose M. Lucena
10,
Raquel M. Fernandez
11,
Maria Ruiz-Camacho
7,
Alberto Varona
12 and
Olaf Neth
1,*
1
Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital Vírgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain
2
Clinical Biochemistry Department, University Hospital Vírgen del Rocío, 41013 Seville, Spain
3
Neuropediatric Service, University Hospital Vírgen del Rocío,41013 Seville, Spain
4
Department of Pharmacology, Pediatrics and Radiology, University of Seville, 41008 Seville, Spain
5
Neonatology Unit, Virgen de Valme Hospital, 41018 Seville, Spain
6
Neonatology Unit, Hospital Universitario Virgen de Macarena, 41008 Seville, Spain
7
Neonatology Service, Juan Ramón Jiménez Hospital, 21005 Huelva, Spain
8
Neonatology Unit, University Hospital Vírgen del Rocío, 41013 Seville, Spain
9
Hospital Viamed Santa Angela de la Cruz, Sevilla and Neurolinkia, 41018 Seville, Spain
10
Unidad de Inmunología, University Hospital Vírgen del Rocío, 41013 Seville, Spain
11
Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville; 41013 Seville, Spain
12
Paediatrics Service of Riotinto Hospital, 21660 Huelva, Spain
 
add Show full affiliation list
 
remove Hide full affiliation list
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2025, 11(1), 11; https://doi.org/10.3390/ijns11010011
Submission received: 15 October 2024 / Revised: 24 January 2025 / Accepted: 24 January 2025 / Published: 30 January 2025
Versions Notes

Abstract

Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and SCID. RT–PCR was performed on prospectively collected dried blood spots (DBSs) from newborns in Western Andalusia (Spain). Internal and external controls (SCID, XLA and SMA) were included. The determination of SMA was relative (positive/negative) and that of TRECs and KRECs was quantitative (copies/punch). A total of 14.035 prospective samples were analysed. All controls were correctly identified while no cases of SMA or SCID/XLA were prospectively identified. DBS analysis of infants with suspected SMA or STBCL that presented to our centre showed pathological values in two cases each for SMA and SCID and one for XLA, all of them being subsequently confirmed genetically. In this prospective pilot study, no infants with SMA or STBCL were detected; however, the technique applied here was shown to be reliable and fast, further supporting the benefits and need to include SMA and SCID in national newborn screening (NBS) programs, as it will allow early supportive and curative therapy.
Keywords: spinal muscular atrophy; SMA; SCID; newborn screening; TRECs; KRECs spinal muscular atrophy; SMA; SCID; newborn screening; TRECs; KRECs

Share and Cite

MDPI and ACS Style

De Felipe, B.; Delgado-Pecellin, C.; Lopez-Lobato, M.; Olbrich, P.; Blanco-Lobo, P.; Marquez-Fernandez, J.; Salamanca, C.; Mendoza, B.; Castro-Serrano, R.; Duque, C.; et al. Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. Int. J. Neonatal Screen. 2025, 11, 11. https://doi.org/10.3390/ijns11010011

AMA Style

De Felipe B, Delgado-Pecellin C, Lopez-Lobato M, Olbrich P, Blanco-Lobo P, Marquez-Fernandez J, Salamanca C, Mendoza B, Castro-Serrano R, Duque C, et al. Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. International Journal of Neonatal Screening. 2025; 11(1):11. https://doi.org/10.3390/ijns11010011

Chicago/Turabian Style

De Felipe, Beatriz, Carmen Delgado-Pecellin, Mercedes Lopez-Lobato, Peter Olbrich, Pilar Blanco-Lobo, Josefina Marquez-Fernandez, Carmen Salamanca, Beatriz Mendoza, Rocio Castro-Serrano, Cristina Duque, and et al. 2025. "Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study" International Journal of Neonatal Screening 11, no. 1: 11. https://doi.org/10.3390/ijns11010011

APA Style

De Felipe, B., Delgado-Pecellin, C., Lopez-Lobato, M., Olbrich, P., Blanco-Lobo, P., Marquez-Fernandez, J., Salamanca, C., Mendoza, B., Castro-Serrano, R., Duque, C., Moreno-Prieto, M., Madruga-Garrido, M., Lucena, J. M., Fernandez, R. M., Ruiz-Camacho, M., Varona, A., & Neth, O. (2025). Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. International Journal of Neonatal Screening, 11(1), 11. https://doi.org/10.3390/ijns11010011

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop